A group of researchers led by Children’s Hospital of Philadelphia and Penn Medicine are exploring the biological causes of mental illness through a multisystem disorder linked to a single missing chromosome. Their study has received funding through a grant from the National Institute of Mental Health, part of the National Institutes of Health. It will focus on 22q11.2 deletion syndrome and the genes linked to the multisystem disorder.
“Discovering genes implicated in the deletion syndrome… may offer important clues to the biological causes of mental illness in the general population,” according to a statement from CHOP.
The broader goal of the study is to identify biological pathways leading to schizophrenia in the broader population, with the hope that this data could lead to the development of novel, more effective treatments.
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The co-directors of the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome are Donna McDonald-McGinn, program director of the 22q and You Center at The Children’s Hospital of Philadelphia and Dr. Raquel Gur, director of the neuropsychiatry program at the Perelman School of Medicine at the University of Pennsylvania.
Other partners in the consortium that are involved in the study include Albert Einstein College of Medicine, Duke University, Emory University, SUNY Syracuse, UCLA and UC Davis, in the U.S. Other countries represented in the consortium are: Australia, Belgium, Canada, Chile, England, France Holland, Ireland, Israel, Italy, and Wales.
The numerous symptoms that can come with the disorder such as heart defects, seizures, hearing loss, scoliosis, or feeding and swallowing problems, complicate its detection and lead to frequent misdiagnoses. Patients with this condition tend to have developmental problems such as learning disabilities, autism spectrum disorder, attention-deficit hyperactivity disorder as well as anxiety or obsessive-compulsive disorder. Schizophrenia develops in 25 percent to 30 percent of patients with the condition in adolescence — much higher than the 1 percent rate for the general population.
If researchers can identify which genes are associated with 22q11.2 deletion syndrome, it could bring them a step closer to developing therapeutics to treat the disorder.
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[Photo credit: Neurological disorder from BigStock Photos]
